Roze Emmanuel, Apartis Emmanuelle, Trocello Jean-Marc
INSERM, U731, Paris, France.
Mov Disord. 2008 Apr 15;23(5):761-4. doi: 10.1002/mds.21954.
Myoclonus-dystonia (M-D) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (DYT11). We explore pathophysiological characteristics of M-D with the hypothesis that they may be different from those of sporadic or genetic dystonia. We compared five carriers of the DYT11 gene mutation and 10 healthy controls. Using transcranial magnetic stimulation, we measured parameters assessing cortical membrane excitability (active motor threshold, aMT) and synaptic activity (short interval, sICI) and afferent (AI) intracortical inhibitions and their interaction. aMT was significantly higher in the DYT11 gene carriers than in normal subjects. The others parameters (sICI, AI and their interaction) were not different between the two groups. In DYT11 gene carriers cortical membrane excitability was impaired while parameters assessing cortical synaptic activity were normal. Opposite results have been obtained in focal sporadic and generalized DYT1 dystonias.
肌阵挛性肌张力障碍（M-D）是一种常染色体显性运动障碍，由ε-肌聚糖基因（DYT11）突变引起。我们探讨了M-D的病理生理特征，并假设其可能与散发性或遗传性肌张力障碍不同。我们比较了5名DYT11基因突变携带者和10名健康对照者。使用经颅磁刺激，我们测量了评估皮质膜兴奋性（主动运动阈值，aMT）和突触活动（短间隔，sICI）以及传入（AI）皮质内抑制及其相互作用的参数。DYT11基因携带者的aMT显著高于正常受试者。两组之间的其他参数（sICI、AI及其相互作用）没有差异。在DYT11基因携带者中，皮质膜兴奋性受损，而评估皮质突触活动的参数正常。在局灶性散发性和全身性DYT1肌张力障碍中得到了相反的结果。
